Submissions for variant NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=)

gnomAD frequency: 0.00067  dbSNP: rs45484792

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000528144	SCV000410229	benign	Hereditary sensory neuropathy-deafness-dementia syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001311156	SCV000522862	benign	not provided	2020-02-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528144	SCV000651292	likely benign	Hereditary sensory neuropathy-deafness-dementia syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000434053	SCV000708029	likely benign	not specified	2017-05-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311156	SCV001501223	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	DNMT1: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001311156	SCV004564667	likely benign	not provided	2023-10-31	criteria provided, single submitter	clinical testing